|
OMIM |
Link |
Information gain |
01 |
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.00825974
|
|
|
MG
|
[NCBI]
|
0.00430297
|
|
|
WDM
|
[NCBI]
|
0.00399307
|
|
|
glycogen storage disease ii
|
[NCBI]
|
0.00295383
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.00258951
|
|
|
ACHE
|
[NCBI]
|
0.00257542
|
|
|
RA
|
[NCBI]
|
0.00236228
|
|
|
glycogen storage disease v
|
[NCBI]
|
0.00229762
|
|
|
AMCN
|
[NCBI]
|
0.00228254
|
|
|
glycogen storage disease vii
|
[NCBI]
|
0.00216562
|
|
|
DMD
|
[NCBI]
|
0.00187397
|
|
|
rhabdomyolysis, acute recurrent
|
[NCBI]
|
0.00182124
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.00181339
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00166814
|
|
|
MHS1
|
[NCBI]
|
0.00161539
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
0.00149758
|
|
|
vacuolar neuromyopathy
|
[NCBI]
|
0.00139674
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
0.00139135
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00131963
|
|
|
RSMD1
|
[NCBI]
|
0.00126801
|
|
|
CF
|
[NCBI]
|
0.00122147
|
|
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.001207
|
|
|
spinal muscular atrophy, distal, congenital nonprogressive
|
[NCBI]
|
0.001207
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.001207
|
|
|
SLE
|
[NCBI]
|
0.00118661
|
|
|
NEM3
|
[NCBI]
|
0.00108677
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.00107796
|
|
|
OPMD
|
[NCBI]
|
0.000992028
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.000979982
|
|
|
HMN7A
|
[NCBI]
|
0.000979982
|
|
|
hereditary motor and sensory neuropathy v
|
[NCBI]
|
0.000979982
|
|
|
KSS
|
[NCBI]
|
0.000943171
|
|
|
LPL
|
[NCBI]
|
0.000938689
|
|
|
myopathy, distal, with onset in infancy
|
[NCBI]
|
0.000909628
|
|
|
ethanolaminosis
|
[NCBI]
|
0.000909628
|
|
|
LGMD1G
|
[NCBI]
|
0.000909628
|
|
|
neuropathy, congenital, with arthrogryposis multiplex
|
[NCBI]
|
0.000909628
|
|
|
muscular dystrophy, pseudohypertrophic, with internalized capillaries
|
[NCBI]
|
0.000909628
|
|
|
ocular myopathy with curare sensitivity
|
[NCBI]
|
0.000909628
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.000909628
|
|
|
amyotrophic lateral sclerosis, juvenile, with dementia
|
[NCBI]
|
0.000909628
|
|
|
HYPP
|
[NCBI]
|
0.000868936
|
|
|
glycogen storage disease iii
|
[NCBI]
|
0.000843288
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.000835274
|
|
|
MBS
|
[NCBI]
|
0.000813819
|
|
|
MTM1
|
[NCBI]
|
0.000785446
|
|
|
DMD
|
[NCBI]
|
0.000711759
|
|
|
glycogen storage disease iv
|
[NCBI]
|
0.00065704
|
|
|
FSHMD1A
|
[NCBI]
|
0.000646004
|
|
|
PMC
|
[NCBI]
|
0.00060602
|
|
|
muscle cramps, familial
|
[NCBI]
|
0.000602542
|
|
|
LGMD1F
|
[NCBI]
|
0.000602542
|
|
|
scholte syndrome
|
[NCBI]
|
0.000602542
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000602542
|
|
|
spinocerebellar ataxia with rigidity and peripheral neuropathy
|
[NCBI]
|
0.000602542
|
|
|
neuropathy, hereditary motor and sensory, okinawa type
|
[NCBI]
|
0.000602542
|
|
|
LGMD2L
|
[NCBI]
|
0.000602542
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.000602542
|
|
|
CDSP
|
[NCBI]
|
0.000598936
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
0.000598886
|
|
|
MERRF
|
[NCBI]
|
0.000575373
|
|
|
CFTD
|
[NCBI]
|
0.000560628
|
|
|
BMD
|
[NCBI]
|
0.000550437
|
|
|
central core disease of muscle
|
[NCBI]
|
0.000534199
|
|
|
RMD1
|
[NCBI]
|
0.000489066
|
|
|
saccharopinuria
|
[NCBI]
|
0.000489066
|
|
|
behr syndrome
|
[NCBI]
|
0.000489066
|
|
|
muscular dystrophy, congenital, merosin-positive
|
[NCBI]
|
0.000489066
|
|
|
LGMD1D
|
[NCBI]
|
0.000489066
|
|
|
malignant hyperthermia, susceptibility to, 3
|
[NCBI]
|
0.000489066
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
0.000489066
|
|
|
myopathy, hyaline body, autosomal recessive
|
[NCBI]
|
0.000489066
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000489066
|
|
|
AMC
|
[NCBI]
|
0.000483146
|
|
|
MB
|
[NCBI]
|
0.000444276
|
|
|
muscle glycogenosis, x-linked
|
[NCBI]
|
0.000444061
|
|
|
EDMD
|
[NCBI]
|
0.000442615
|
|
|
MDC1A
|
[NCBI]
|
0.000417877
|
|
|
arthrogryposis multiplex congenita, distal, x-linked
|
[NCBI]
|
0.000416746
|
|
|
MPD2
|
[NCBI]
|
0.000416746
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
0.000416746
|
|
|
SJS1
|
[NCBI]
|
0.000416488
|
|
|
mitochondrial myopathy with diabetes
|
[NCBI]
|
0.000406896
|
|
|
MSS
|
[NCBI]
|
0.000406604
|
|
|
AMPD1
|
[NCBI]
|
0.000388324
|
|
|
SMAX1
|
[NCBI]
|
0.000373296
|
|
|
malignant hyperthermia, susceptibility to, 2
|
[NCBI]
|
0.000363972
|
|
|
CLN4A
|
[NCBI]
|
0.000363972
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
0.000363972
|
|
|
DM2
|
[NCBI]
|
0.000345401
|
|
|
EA1
|
[NCBI]
|
0.000343812
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
0.000343176
|
|
|
phosphorylase kinase deficiency of liver and muscle, autosomal recessive
|
[NCBI]
|
0.000336992
|
|
|
IOSCA
|
[NCBI]
|
0.00032271
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 2
|
[NCBI]
|
0.00032271
|
|
|
myopathy, centronuclear, autosomal recessive
|
[NCBI]
|
0.000310324
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
0.000310324
|
|
|
LGMD1A
|
[NCBI]
|
0.000310324
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
0.000310324
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
0.000303865
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
0.000301726
|
|
|
LGMD2C
|
[NCBI]
|
0.000294078
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
0.000290305
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
0.000289223
|
|
|
MEAX
|
[NCBI]
|
0.000289056
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.000289056
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
0.00027965
|
|
|
PFKM
|
[NCBI]
|
0.000277288
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
0.000271729
|
|
|
poland syndrome
|
[NCBI]
|
0.000270171
|
|
|
danon disease
|
[NCBI]
|
0.000270166
|
|
|
glycogen storage disease of heart, lethal congenital
|
[NCBI]
|
0.000269843
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
0.000269843
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000259343
|
|
|
VEGF
|
[NCBI]
|
0.000258623
|
|
|
SCN4A
|
[NCBI]
|
0.000257684
|
|
|
brody myopathy
|
[NCBI]
|
0.000256786
|
|
|
myopathy, myosin storage
|
[NCBI]
|
0.000256786
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
0.000253607
|
|
|
FCMD
|
[NCBI]
|
0.000252121
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
0.000243748
|
|
|
PYGM
|
[NCBI]
|
0.00023881
|
|
|
LGMD2J
|
[NCBI]
|
0.0002388
|
|
|
GAPDH
|
[NCBI]
|
0.000236085
|
|
|
MTTK
|
[NCBI]
|
0.00022547
|
|
|
muscular hypoplasia, congenital universal, of krabbe
|
[NCBI]
|
0.000221976
|
|
|
spinal muscular atrophy, scapuloperoneal
|
[NCBI]
|
0.000221976
|
|
|
MYOD1
|
[NCBI]
|
0.000221838
|
|
|
lactic acidosis, fatal infantile
|
[NCBI]
|
0.000216877
|
|
|
DAG1
|
[NCBI]
|
0.000215393
|
|
|
VED
|
[NCBI]
|
0.000212431
|
|
|
HOKPP
|
[NCBI]
|
0.000212431
|
|
|
EDMD2
|
[NCBI]
|
0.000203849
|
|
|
CDS
|
[NCBI]
|
0.000195955
|
|
|
EGF
|
[NCBI]
|
0.000194641
|
|
|
CLCN1
|
[NCBI]
|
0.000194463
|
|
|
CHRNA1
|
[NCBI]
|
0.000192451
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
0.000191864
|
|
|
CA3
|
[NCBI]
|
0.000186784
|
|
|
mitochondrial complex ii deficiency
|
[NCBI]
|
0.000185895
|
|
|
TNF
|
[NCBI]
|
0.000184628
|
|
|
APC
|
[NCBI]
|
0.000180223
|
|
|
RYR1
|
[NCBI]
|
0.000178809
|
|
|
LS
|
[NCBI]
|
0.000175809
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
0.000174107
|
|
|
HMN2A
|
[NCBI]
|
0.000174107
|
|
|
epidermolysis bullosa simplex and limb-girdle muscular dystrophy
|
[NCBI]
|
0.000174107
|
|
|
myopathy, spheroid body
|
[NCBI]
|
0.000168442
|
|
|
myopathy with storage of glycoproteins and glycosaminoglycans
|
[NCBI]
|
0.000168442
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
0.000168442
|
|
|
PRL
|
[NCBI]
|
0.000163182
|
|
|
RP
|
[NCBI]
|
0.000159726
|
|
|
LGMD2A
|
[NCBI]
|
0.000158742
|
|
|
PWS
|
[NCBI]
|
0.00015464
|
|
|
MELAS
|
[NCBI]
|
0.000153763
|
|
|
SCCMS
|
[NCBI]
|
0.00014693
|
|
|
HMN5
|
[NCBI]
|
0.00014693
|
|
|
BTHS
|
[NCBI]
|
0.00014484
|
|
|
wolfram syndrome, mitochondrial form
|
[NCBI]
|
0.000144559
|
|
|
LGMD2H
|
[NCBI]
|
0.000144559
|
|
|
adie pupil
|
[NCBI]
|
0.000144559
|
|
|
native american myopathy
|
[NCBI]
|
0.000144559
|
|
|
lady bird late, drosophila, homolog of, 1
|
[NCBI]
|
0.000142781
|
|
|
MM
|
[NCBI]
|
0.000136224
|
|
|
CJD
|
[NCBI]
|
0.000129666
|
|
|
PHKA1
|
[NCBI]
|
0.000128534
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
0.000128341
|
|
|
HNPP
|
[NCBI]
|
0.000127703
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
0.000127159
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000127159
|
|
|
bethlem myopathy
|
[NCBI]
|
0.000127159
|
|
|
UTRN
|
[NCBI]
|
0.0001256
|
|
|
ACTA1
|
[NCBI]
|
0.0001256
|
|
|
MTTL1
|
[NCBI]
|
0.000120741
|
|
|
GPI
|
[NCBI]
|
0.000119047
|
|
|
MEB
|
[NCBI]
|
0.000118364
|
|
|
CRH
|
[NCBI]
|
0.000112973
|
|
|
muscular dystrophy, adult-onset, with leukoencephalopathy
|
[NCBI]
|
0.000110974
|
|
|
peroneal nerve, accessory deep
|
[NCBI]
|
0.000110974
|
|
|
ataxia with myoclonic epilepsy and presenile dementia
|
[NCBI]
|
0.000110974
|
|
|
gluteal muscles, absence of
|
[NCBI]
|
0.000110974
|
|
|
muscular dystrophy, cardiac type
|
[NCBI]
|
0.000110974
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
0.000110974
|
|
|
cramps, familial adolescent
|
[NCBI]
|
0.000110974
|
|
|
normokalemic periodic paralysis
|
[NCBI]
|
0.000110974
|
|
|
peroneus tertius muscle, absence of
|
[NCBI]
|
0.000110974
|
|
|
spinal muscular atrophy with microcephaly and mental subnormality
|
[NCBI]
|
0.000110974
|
|
|
myoclonus, cerebellar ataxia, and deafness
|
[NCBI]
|
0.000110974
|
|
|
myopathy, early-onset, with fatal cardiomyopathy
|
[NCBI]
|
0.000110974
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000110974
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
0.000110974
|
|
|
veins, pattern of, on anterior thorax
|
[NCBI]
|
0.000110974
|
|
|
renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial dna
|
[NCBI]
|
0.000110974
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
0.000110974
|
|
|
dystonia with ringbinden
|
[NCBI]
|
0.000110974
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
0.000110974
|
|
|
myopathy, distal, with early respiratory failure, autosomal dominant
|
[NCBI]
|
0.000110974
|
|
|
spinal muscular atrophy with mental retardation
|
[NCBI]
|
0.000110974
|
|
|
spinal muscular atrophy, ryukyuan type
|
[NCBI]
|
0.000110974
|
|
|
muscular dystrophy, progressive pectorodorsal
|
[NCBI]
|
0.000110974
|
|
|
hypertrophic neuropathy and cataract
|
[NCBI]
|
0.000110974
|
|
|
oculopharyngodistal myopathy
|
[NCBI]
|
0.000110974
|
|
|
lactic acidosis, chronic adult form
|
[NCBI]
|
0.000110974
|
|
|
fingerprint body myopathy
|
[NCBI]
|
0.000110974
|
|
|
scapuloperoneal myopathy, x-linked dominant
|
[NCBI]
|
0.000110974
|
|
|
adrenomyodystrophy
|
[NCBI]
|
0.000110974
|
|
|
myopathy with abnormal lipid metabolism
|
[NCBI]
|
0.000110974
|
|
|
myopathy, granulovacuolar lobular, with electrical myotonia
|
[NCBI]
|
0.000110974
|
|
|
myotonic myopathy with cylindrical spirals
|
[NCBI]
|
0.000110974
|
|
|
neuropathy, painful
|
[NCBI]
|
0.000110974
|
|
|
ENO3
|
[NCBI]
|
0.000110864
|
|
|
DSTN
|
[NCBI]
|
0.000110356
|
|
|
MEF2A
|
[NCBI]
|
0.000107644
|
|
|
EAD
|
[NCBI]
|
0.000106166
|
|
|
APBD
|
[NCBI]
|
0.000106166
|
|
|
LGMD2E
|
[NCBI]
|
0.000106166
|
|
|
SPMM
|
[NCBI]
|
0.000106166
|
|
|
ACTC1
|
[NCBI]
|
0.000104656
|
|
|
PHKB
|
[NCBI]
|
0.000104
|
|
|
BRRS
|
[NCBI]
|
0.000103712
|
|
|
CACNG1
|
[NCBI]
|
0.00010368
|
|
|
MYH3
|
[NCBI]
|
0.00010368
|
|
|
PHKG1
|
[NCBI]
|
0.00010368
|
|
|
MYL1
|
[NCBI]
|
0.00010368
|
|
|
CAV3
|
[NCBI]
|
0.000102291
|
|
|
SPG17
|
[NCBI]
|
9.79292e-05
|
|
|
RMD
|
[NCBI]
|
9.55314e-05
|
|
|
GFAP
|
[NCBI]
|
9.31642e-05
|
|
|
DMPK
|
[NCBI]
|
9.11346e-05
|
|
|
carnitine palmitoyltransferase i deficiency
|
[NCBI]
|
9.08858e-05
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
9.08858e-05
|
|
|
DES
|
[NCBI]
|
8.99383e-05
|
|
|
SLC25A4
|
[NCBI]
|
8.71655e-05
|
|
|
CKM
|
[NCBI]
|
8.67387e-05
|
|
|
GAN1
|
[NCBI]
|
8.56099e-05
|
|
|
CCK
|
[NCBI]
|
8.50489e-05
|
|
|
LAMA2
|
[NCBI]
|
8.09966e-05
|
|
|
MIRN1-1
|
[NCBI]
|
7.95649e-05
|
|
|
MYOG
|
[NCBI]
|
7.95649e-05
|
|
|
CASQ1
|
[NCBI]
|
7.95649e-05
|
|
|
MEF2D
|
[NCBI]
|
7.95649e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
7.93256e-05
|
|
|
LGMD2D
|
[NCBI]
|
7.93256e-05
|
|
|
amyloidosis v
|
[NCBI]
|
7.93256e-05
|
|
|
EGFR
|
[NCBI]
|
7.90501e-05
|
|
|
CACNA1S
|
[NCBI]
|
7.85237e-05
|
|
|
SRF
|
[NCBI]
|
7.67124e-05
|
|
|
PFKL
|
[NCBI]
|
7.62574e-05
|
|
|
TNNT1
|
[NCBI]
|
7.39075e-05
|
|
|
pleoconial myopathy with salt craving
|
[NCBI]
|
7.22661e-05
|
|
|
hypermetabolism due to defect in mitochondria
|
[NCBI]
|
7.22661e-05
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
7.22661e-05
|
|
|
torticollis
|
[NCBI]
|
7.22661e-05
|
|
|
filaminopathy, autosomal dominant
|
[NCBI]
|
7.22661e-05
|
|
|
pseudoacromegaly with severe insulin resistance
|
[NCBI]
|
7.22661e-05
|
|
|
DMAT
|
[NCBI]
|
7.22661e-05
|
|
|
long chain fatty acids, defect in transport of
|
[NCBI]
|
7.22661e-05
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
7.22661e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
7.22661e-05
|
|
|
hexokinase of spermatozoa
|
[NCBI]
|
7.22661e-05
|
|
|
charcot-marie-tooth disease and deafness
|
[NCBI]
|
7.22661e-05
|
|
|
t-box 24
|
[NCBI]
|
7.22661e-05
|
|
|
thyrotoxic periodic paralysis
|
[NCBI]
|
7.22661e-05
|
|
|
GUK2
|
[NCBI]
|
7.22661e-05
|
|
|
minicore myopathy, antenatal onset, with arthrogryposis
|
[NCBI]
|
7.22661e-05
|
|
|
myasthenia, limb-girdle, autoimmune
|
[NCBI]
|
7.22661e-05
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
7.01031e-05
|
|
|
NM
|
[NCBI]
|
7.01031e-05
|
|
|
VIP
|
[NCBI]
|
6.98298e-05
|
|
|
myosin, light chain 1, slow, a
|
[NCBI]
|
6.91157e-05
|
|
|
ACYP2
|
[NCBI]
|
6.91157e-05
|
|
|
LAMP2
|
[NCBI]
|
6.87198e-05
|
|
|
PCNA
|
[NCBI]
|
6.82566e-05
|
|
|
XK
|
[NCBI]
|
6.71256e-05
|
|
|
LDHA
|
[NCBI]
|
6.71256e-05
|
|
|
CFTR
|
[NCBI]
|
6.65226e-05
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
6.61266e-05
|
|
|
MTTE
|
[NCBI]
|
6.58626e-05
|
|
|
EPO
|
[NCBI]
|
6.41835e-05
|
|
|
MYF5
|
[NCBI]
|
6.27813e-05
|
|
|
GYS1
|
[NCBI]
|
6.27813e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
6.24885e-05
|
|
|
UCMD
|
[NCBI]
|
6.24885e-05
|
|
|
AVP
|
[NCBI]
|
6.19431e-05
|
|
|
FOP
|
[NCBI]
|
6.11304e-05
|
|
|
MTM1
|
[NCBI]
|
6.03387e-05
|
|
|
RAPSN
|
[NCBI]
|
6.01041e-05
|
|
|
AGRN
|
[NCBI]
|
6.01041e-05
|
|
|
TH
|
[NCBI]
|
5.98743e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
5.91972e-05
|
|
|
HAM
|
[NCBI]
|
5.80105e-05
|
|
|
RCM1
|
[NCBI]
|
5.80105e-05
|
|
|
SPG8
|
[NCBI]
|
5.80105e-05
|
|
|
myopathy with giant abnormal mitochondria
|
[NCBI]
|
5.80105e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
5.80105e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
5.80105e-05
|
|
|
myotonia, potassium-aggravated
|
[NCBI]
|
5.80105e-05
|
|
|
LIMM
|
[NCBI]
|
5.80105e-05
|
|
|
MYH1
|
[NCBI]
|
5.77378e-05
|
|
|
CGL2
|
[NCBI]
|
5.60485e-05
|
|
|
IBM2
|
[NCBI]
|
5.60485e-05
|
|
|
PYGB
|
[NCBI]
|
5.54233e-05
|
|
|
CACNB1
|
[NCBI]
|
5.54233e-05
|
|
|
CNTF
|
[NCBI]
|
5.53123e-05
|
|
|
IDE
|
[NCBI]
|
5.49777e-05
|
|
|
NIDDM
|
[NCBI]
|
5.38117e-05
|
|
|
MYF6
|
[NCBI]
|
5.37002e-05
|
|
|
MEF2C
|
[NCBI]
|
5.37002e-05
|
|
|
SPG3A
|
[NCBI]
|
5.31779e-05
|
|
|
F3
|
[NCBI]
|
5.2576e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
5.05045e-05
|
|
|
ACTB
|
[NCBI]
|
5.03381e-05
|
|
|
CPT1B
|
[NCBI]
|
4.92674e-05
|
|
|
MIRN1-2
|
[NCBI]
|
4.92674e-05
|
|
|
ACTN2
|
[NCBI]
|
4.92674e-05
|
|
|
hypotension, orthostatic
|
[NCBI]
|
4.89525e-05
|
|
|
3-@hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
4.89525e-05
|
|
|
alpha-b crystallinopathy
|
[NCBI]
|
4.89525e-05
|
|
|
ALDOA
|
[NCBI]
|
4.88478e-05
|
|
|
HNA
|
[NCBI]
|
4.80067e-05
|
|
|
PPS
|
[NCBI]
|
4.56666e-05
|
|
|
MYH7
|
[NCBI]
|
4.53846e-05
|
|
|
HRC
|
[NCBI]
|
4.50602e-05
|
|
|
CFL2
|
[NCBI]
|
4.50602e-05
|
|
|
CDH15
|
[NCBI]
|
4.50602e-05
|
|
|
CEACAM5
|
[NCBI]
|
4.42764e-05
|
|
|
MYH6
|
[NCBI]
|
4.38075e-05
|
|
|
PGK1
|
[NCBI]
|
4.2875e-05
|
|
|
CHRNE
|
[NCBI]
|
4.27273e-05
|
|
|
SANDO
|
[NCBI]
|
4.23631e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
4.23631e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
4.23631e-05
|
|
|
glycogen storage disease 0, muscle
|
[NCBI]
|
4.23631e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
4.23631e-05
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
4.23631e-05
|
|
|
glycogen storage disease 0, liver
|
[NCBI]
|
4.23631e-05
|
|
|
PHKG2
|
[NCBI]
|
4.185e-05
|
|
|
TNNC1
|
[NCBI]
|
4.185e-05
|
|
|
MTTF
|
[NCBI]
|
4.185e-05
|
|
|
PPP1R2
|
[NCBI]
|
4.185e-05
|
|
|
MEF2B
|
[NCBI]
|
4.185e-05
|
|
|
RYR2
|
[NCBI]
|
4.07331e-05
|
|
|
HK1
|
[NCBI]
|
3.98089e-05
|
|
|
MADD
|
[NCBI]
|
3.94483e-05
|
|
|
TK2
|
[NCBI]
|
3.92536e-05
|
|
|
SEPN1
|
[NCBI]
|
3.92536e-05
|
|
|
CFL1
|
[NCBI]
|
3.92536e-05
|
|
|
glycogen storage disease vi
|
[NCBI]
|
3.92536e-05
|
|
|
PDLIM3
|
[NCBI]
|
3.92536e-05
|
|
|
GBE1
|
[NCBI]
|
3.92536e-05
|
|
|
DTNA
|
[NCBI]
|
3.92536e-05
|
|
|
CRYAB
|
[NCBI]
|
3.89275e-05
|
|
|
SDC2
|
[NCBI]
|
3.86213e-05
|
|
|
ACADS
|
[NCBI]
|
3.80856e-05
|
|
|
glycogen storage disease i
|
[NCBI]
|
3.72797e-05
|
|
|
MBP
|
[NCBI]
|
3.7239e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
3.72276e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
3.72276e-05
|
|
|
LGMD1C
|
[NCBI]
|
3.72276e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2
|
[NCBI]
|
3.72276e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
|
[NCBI]
|
3.72276e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
3.72276e-05
|
|
|
DA1
|
[NCBI]
|
3.72276e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
3.72276e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
3.72276e-05
|
|
|
mitochondrial complex iii deficiency
|
[NCBI]
|
3.72276e-05
|
|
|
HSPA2
|
[NCBI]
|
3.70749e-05
|
|
|
PFKP
|
[NCBI]
|
3.70749e-05
|
|
|
ANXA7
|
[NCBI]
|
3.70749e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
3.70749e-05
|
|
|
PGAM1
|
[NCBI]
|
3.70749e-05
|
|
|
MUSK
|
[NCBI]
|
3.70749e-05
|
|
|
PLEC1
|
[NCBI]
|
3.70749e-05
|
|
|
TTN
|
[NCBI]
|
3.65073e-05
|
|
|
DYSF
|
[NCBI]
|
3.65073e-05
|
|
|
ACTG1
|
[NCBI]
|
3.51995e-05
|
|
|
MAPK6
|
[NCBI]
|
3.51995e-05
|
|
|
MIC12
|
[NCBI]
|
3.45557e-05
|
|
|
COX6A2
|
[NCBI]
|
3.45557e-05
|
|
|
EEF1B4
|
[NCBI]
|
3.45557e-05
|
|
|
x123 gene
|
[NCBI]
|
3.45557e-05
|
|
|
PPP2R3A
|
[NCBI]
|
3.45557e-05
|
|
|
MYL5
|
[NCBI]
|
3.45557e-05
|
|
|
PFKFB2
|
[NCBI]
|
3.45557e-05
|
|
|
EEF1B3
|
[NCBI]
|
3.45557e-05
|
|
|
RNF29
|
[NCBI]
|
3.45557e-05
|
|
|
VAMP5
|
[NCBI]
|
3.45557e-05
|
|
|
MYBPH
|
[NCBI]
|
3.45557e-05
|
|
|
COX7A3
|
[NCBI]
|
3.45557e-05
|
|
|
MYBPC1
|
[NCBI]
|
3.45557e-05
|
|
|
DTNB
|
[NCBI]
|
3.45557e-05
|
|
|
DSEL
|
[NCBI]
|
3.45557e-05
|
|
|
PPP1CB
|
[NCBI]
|
3.45557e-05
|
|
|
MYBPC2
|
[NCBI]
|
3.45557e-05
|
|
|
CAND2
|
[NCBI]
|
3.45557e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
3.42042e-05
|
|
|
SLC2A4
|
[NCBI]
|
3.36135e-05
|
|
|
SLC2A3
|
[NCBI]
|
3.35547e-05
|
|
|
EYA2
|
[NCBI]
|
3.35547e-05
|
|
|
PGM1
|
[NCBI]
|
3.30673e-05
|
|
|
GAA
|
[NCBI]
|
3.30673e-05
|
|
|
MTCYB
|
[NCBI]
|
3.30673e-05
|
|
|
PLSJ
|
[NCBI]
|
3.30528e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
3.30528e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
3.30528e-05
|
|
|
IBMPFD
|
[NCBI]
|
3.30528e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
3.30528e-05
|
|
|
DGS
|
[NCBI]
|
3.27885e-05
|
|
|
CPT2
|
[NCBI]
|
3.2091e-05
|
|
|
SCN2A
|
[NCBI]
|
3.2091e-05
|
|
|
VDR
|
[NCBI]
|
3.20181e-05
|
|
|
AFP
|
[NCBI]
|
3.1047e-05
|
|
|
SIX5
|
[NCBI]
|
3.07736e-05
|
|
|
ATP2A1
|
[NCBI]
|
3.07736e-05
|
|
|
CPT1A
|
[NCBI]
|
3.07736e-05
|
|
|
MPI
|
[NCBI]
|
3.07736e-05
|
|
|
SGCA
|
[NCBI]
|
3.07736e-05
|
|
|
PINK1
|
[NCBI]
|
3.07736e-05
|
|
|
ZNF9
|
[NCBI]
|
3.07736e-05
|
|
|
ALD
|
[NCBI]
|
2.97766e-05
|
|
|
SIX1
|
[NCBI]
|
2.95767e-05
|
|
|
thyrotropin deficiency, isolated
|
[NCBI]
|
2.95608e-05
|
|
|
mast cell disease
|
[NCBI]
|
2.95608e-05
|
|
|
RMS1
|
[NCBI]
|
2.95608e-05
|
|
|
ALS2
|
[NCBI]
|
2.95608e-05
|
|
|
lipomatosis, familial benign cervical
|
[NCBI]
|
2.95608e-05
|
|
|
MPD1
|
[NCBI]
|
2.95608e-05
|
|
|
KLK3
|
[NCBI]
|
2.93061e-05
|
|
|
IGF2
|
[NCBI]
|
2.91458e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.83683e-05
|
|
|
HGF
|
[NCBI]
|
2.77629e-05
|
|
|
AT
|
[NCBI]
|
2.76387e-05
|
|
|
LHX3
|
[NCBI]
|
2.74711e-05
|
|
|
MJD
|
[NCBI]
|
2.72654e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
2.65793e-05
|
|
|
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
|
[NCBI]
|
2.65793e-05
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
2.65793e-05
|
|
|
CLN5
|
[NCBI]
|
2.65793e-05
|
|
|
mitochondrial myopathy
|
[NCBI]
|
2.65793e-05
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
2.65793e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
2.58482e-05
|
|
|
POMC
|
[NCBI]
|
2.496e-05
|
|
|
DSE
|
[NCBI]
|
2.46316e-05
|
|
|
GSTM2
|
[NCBI]
|
2.46316e-05
|
|
|
ataxin 2-binding protein 1
|
[NCBI]
|
2.46316e-05
|
|
|
PPP1R3C
|
[NCBI]
|
2.46316e-05
|
|
|
SIDT1
|
[NCBI]
|
2.46316e-05
|
|
|
IRTF1
|
[NCBI]
|
2.46316e-05
|
|
|
RASGRP2
|
[NCBI]
|
2.46316e-05
|
|
|
COX8
|
[NCBI]
|
2.46316e-05
|
|
|
sarcomeric muscle protein
|
[NCBI]
|
2.46316e-05
|
|
|
GDI2
|
[NCBI]
|
2.46316e-05
|
|
|
pseudoautosomal gene xe7
|
[NCBI]
|
2.46316e-05
|
|
|
MTTQ
|
[NCBI]
|
2.46316e-05
|
|
|
SMARCD2
|
[NCBI]
|
2.46316e-05
|
|
|
RNF30
|
[NCBI]
|
2.46316e-05
|
|
|
VGLL2
|
[NCBI]
|
2.46316e-05
|
|
|
GUK3
|
[NCBI]
|
2.46316e-05
|
|
|
MAPK4
|
[NCBI]
|
2.46316e-05
|
|
|
RGS7
|
[NCBI]
|
2.46316e-05
|
|
|
SRL
|
[NCBI]
|
2.46316e-05
|
|
|
SMARCD1
|
[NCBI]
|
2.46316e-05
|
|
|
XE7Y
|
[NCBI]
|
2.46316e-05
|
|
|
COX7C
|
[NCBI]
|
2.46316e-05
|
|
|
DNASE1L1
|
[NCBI]
|
2.46316e-05
|
|
|
CHK
|
[NCBI]
|
2.46316e-05
|
|
|
PTPN21
|
[NCBI]
|
2.46316e-05
|
|
|
SMARCC2
|
[NCBI]
|
2.46316e-05
|
|
|
DMWD
|
[NCBI]
|
2.46316e-05
|
|
|
MTTP
|
[NCBI]
|
2.46316e-05
|
|
|
SMARCC1
|
[NCBI]
|
2.46316e-05
|
|
|
COX7A1
|
[NCBI]
|
2.46316e-05
|
|
|
APOE
|
[NCBI]
|
2.41245e-05
|
|
|
BDNF
|
[NCBI]
|
2.41184e-05
|
|
|
SLC22A5
|
[NCBI]
|
2.40848e-05
|
|
|
DLD
|
[NCBI]
|
2.40848e-05
|
|
|
EYA1
|
[NCBI]
|
2.40848e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
2.39942e-05
|
|
|
diabetes-deafness syndrome, maternally transmitted
|
[NCBI]
|
2.39942e-05
|
|
|
CMD3B
|
[NCBI]
|
2.39942e-05
|
|
|
DRD
|
[NCBI]
|
2.39942e-05
|
|
|
PTK2
|
[NCBI]
|
2.35817e-05
|
|
|
CSA
|
[NCBI]
|
2.35501e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
2.33648e-05
|
|
|
INSR
|
[NCBI]
|
2.32488e-05
|
|
|
CD
|
[NCBI]
|
2.31922e-05
|
|
|
temporal arteritis
|
[NCBI]
|
2.31672e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
2.23594e-05
|
|
|
SLC6A3
|
[NCBI]
|
2.18637e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
2.17257e-05
|
|
|
LGMD2B
|
[NCBI]
|
2.17257e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
2.17257e-05
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
2.16351e-05
|
|
|
TMOD
|
[NCBI]
|
2.14303e-05
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
2.13939e-05
|
|
|
ADCYAP1
|
[NCBI]
|
2.11722e-05
|
|
|
CKMT1B
|
[NCBI]
|
2.09229e-05
|
|
|
SIX4
|
[NCBI]
|
2.09229e-05
|
|
|
SCO1
|
[NCBI]
|
2.09229e-05
|
|
|
MTTN
|
[NCBI]
|
2.09229e-05
|
|
|
ERBB2IP
|
[NCBI]
|
2.09229e-05
|
|
|
ACTA2
|
[NCBI]
|
2.09229e-05
|
|
|
MTTY
|
[NCBI]
|
2.09229e-05
|
|
|
MYL4
|
[NCBI]
|
2.09229e-05
|
|
|
SMARCD3
|
[NCBI]
|
2.09229e-05
|
|
|
PPP1R3A
|
[NCBI]
|
2.09229e-05
|
|
|
DECR1
|
[NCBI]
|
2.09229e-05
|
|
|
MDFI
|
[NCBI]
|
2.09229e-05
|
|
|
PADI2
|
[NCBI]
|
2.09229e-05
|
|
|
DDR2
|
[NCBI]
|
2.09229e-05
|
|
|
EYA3
|
[NCBI]
|
2.09229e-05
|
|
|
PPP2R1A
|
[NCBI]
|
2.09229e-05
|
|
|
C6ORF32
|
[NCBI]
|
2.09229e-05
|
|
|
LBX2
|
[NCBI]
|
2.09229e-05
|
|
|
EEF1B2
|
[NCBI]
|
2.09229e-05
|
|
|
MYL6
|
[NCBI]
|
2.09229e-05
|
|
|
KY
|
[NCBI]
|
2.09229e-05
|
|
|
UGP2
|
[NCBI]
|
2.09229e-05
|
|
|
TNNC2
|
[NCBI]
|
2.09229e-05
|
|
|
TNNT2
|
[NCBI]
|
2.02954e-05
|
|
|
BWS
|
[NCBI]
|
1.98181e-05
|
|
|
GTS
|
[NCBI]
|
1.98014e-05
|
|
|
MTATP6
|
[NCBI]
|
1.97666e-05
|
|
|
aging
|
[NCBI]
|
1.97159e-05
|
|
|
TSD
|
[NCBI]
|
1.94575e-05
|
|
|
H19
|
[NCBI]
|
1.87767e-05
|
|
|
SPP1
|
[NCBI]
|
1.86915e-05
|
|
|
lipin 1
|
[NCBI]
|
1.85354e-05
|
|
|
ITGA7
|
[NCBI]
|
1.85354e-05
|
|
|
TNNT3
|
[NCBI]
|
1.85354e-05
|
|
|
ARHGAP21
|
[NCBI]
|
1.85354e-05
|
|
|
WNT10B
|
[NCBI]
|
1.85354e-05
|
|
|
CTNNA3
|
[NCBI]
|
1.85354e-05
|
|
|
CXORF6
|
[NCBI]
|
1.85354e-05
|
|
|
RPL37
|
[NCBI]
|
1.85354e-05
|
|
|
CSRP3
|
[NCBI]
|
1.85354e-05
|
|
|
TRIM37
|
[NCBI]
|
1.85354e-05
|
|
|
alpha-ketoglutarate dehydrogenase deficiency
|
[NCBI]
|
1.85354e-05
|
|
|
PDE7A
|
[NCBI]
|
1.85354e-05
|
|
|
PTK7
|
[NCBI]
|
1.85354e-05
|
|
|
ITGA9
|
[NCBI]
|
1.85354e-05
|
|
|
TRIM32
|
[NCBI]
|
1.85354e-05
|
|
|
GYG
|
[NCBI]
|
1.85354e-05
|
|
|
PASK
|
[NCBI]
|
1.85354e-05
|
|
|
ACTN3
|
[NCBI]
|
1.85354e-05
|
|
|
ITGA6
|
[NCBI]
|
1.85354e-05
|
|
|
TNNI1
|
[NCBI]
|
1.85354e-05
|
|
|
CHRNB1
|
[NCBI]
|
1.85354e-05
|
|
|
RRAD
|
[NCBI]
|
1.85354e-05
|
|
|
antigen defined by monoclonal antibody f10.44.2
|
[NCBI]
|
1.85354e-05
|
|
|
ISL2
|
[NCBI]
|
1.85354e-05
|
|
|
fructosuria
|
[NCBI]
|
1.85354e-05
|
|
|
PDLIM1
|
[NCBI]
|
1.85354e-05
|
|
|
UTS2
|
[NCBI]
|
1.85354e-05
|
|
|
ACAD9
|
[NCBI]
|
1.85354e-05
|
|
|
LMNA
|
[NCBI]
|
1.84801e-05
|
|
|
CLN2
|
[NCBI]
|
1.79215e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
1.79215e-05
|
|
|
CIPA
|
[NCBI]
|
1.79215e-05
|
|
|
POLG
|
[NCBI]
|
1.78662e-05
|
|
|
MTND4
|
[NCBI]
|
1.78662e-05
|
|
|
COL6A1
|
[NCBI]
|
1.78662e-05
|
|
|
MPO
|
[NCBI]
|
1.76132e-05
|
|
|
GNS
|
[NCBI]
|
1.67753e-05
|
|
|
AKAP13
|
[NCBI]
|
1.67753e-05
|
|
|
AGL
|
[NCBI]
|
1.67753e-05
|
|
|
MIRN133A2
|
[NCBI]
|
1.67753e-05
|
|
|
NYX
|
[NCBI]
|
1.67753e-05
|
|
|
PFKFB1
|
[NCBI]
|
1.67753e-05
|
|
|
MIRN124A1
|
[NCBI]
|
1.67753e-05
|
|
|
MIRN133A1
|
[NCBI]
|
1.67753e-05
|
|
|
GPD1
|
[NCBI]
|
1.67753e-05
|
|
|
HTR3A
|
[NCBI]
|
1.67753e-05
|
|
|
CLTCL1
|
[NCBI]
|
1.67753e-05
|
|
|
DPYSL3
|
[NCBI]
|
1.67753e-05
|
|
|
TJP2
|
[NCBI]
|
1.67753e-05
|
|
|
RIC3
|
[NCBI]
|
1.67753e-05
|
|
|
RNF28
|
[NCBI]
|
1.67753e-05
|
|
|
ACCPN
|
[NCBI]
|
1.63094e-05
|
|
|
currarino syndrome
|
[NCBI]
|
1.63094e-05
|
|
|
COFS1
|
[NCBI]
|
1.63094e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
1.63094e-05
|
|
|
MNGIE
|
[NCBI]
|
1.63094e-05
|
|
|
DNAJC5
|
[NCBI]
|
1.62427e-05
|
|
|
PTHLH
|
[NCBI]
|
1.6141e-05
|
|
|
AHR
|
[NCBI]
|
1.5643e-05
|
|
|
MYH2
|
[NCBI]
|
1.53848e-05
|
|
|
TPM2
|
[NCBI]
|
1.53848e-05
|
|
|
GYS2
|
[NCBI]
|
1.53848e-05
|
|
|
MTMR1
|
[NCBI]
|
1.53848e-05
|
|
|
TTPA
|
[NCBI]
|
1.53848e-05
|
|
|
ABL2
|
[NCBI]
|
1.53848e-05
|
|
|
CAPN2
|
[NCBI]
|
1.53848e-05
|
|
|
ADSS
|
[NCBI]
|
1.53848e-05
|
|
|
PLEKHC1
|
[NCBI]
|
1.53848e-05
|
|
|
PADI4
|
[NCBI]
|
1.53848e-05
|
|
|
NFATC4
|
[NCBI]
|
1.53848e-05
|
|
|
ME1
|
[NCBI]
|
1.53848e-05
|
|
|
CKB
|
[NCBI]
|
1.53848e-05
|
|
|
JAG2
|
[NCBI]
|
1.53848e-05
|
|
|
MEOX1
|
[NCBI]
|
1.53848e-05
|
|
|
LHX1
|
[NCBI]
|
1.53848e-05
|
|
|
DACH1
|
[NCBI]
|
1.53848e-05
|
|
|
MSTN
|
[NCBI]
|
1.51678e-05
|
|
|
SCD
|
[NCBI]
|
1.4897e-05
|
|
|
SMA3
|
[NCBI]
|
1.48535e-05
|
|
|
INAD1
|
[NCBI]
|
1.48535e-05
|
|
|
CFEOM1
|
[NCBI]
|
1.48535e-05
|
|
|
ehlers-danlos syndrome, type vii, autosomal recessive
|
[NCBI]
|
1.48535e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
1.48535e-05
|
|
|
AHDS
|
[NCBI]
|
1.48535e-05
|
|
|
EAOH
|
[NCBI]
|
1.48535e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
1.4508e-05
|
|
|
CACNA2D1
|
[NCBI]
|
1.42385e-05
|
|
|
CTF1
|
[NCBI]
|
1.42385e-05
|
|
|
SGCB
|
[NCBI]
|
1.42385e-05
|
|
|
MYH8
|
[NCBI]
|
1.42385e-05
|
|
|
PCAF
|
[NCBI]
|
1.42385e-05
|
|
|
CHRND
|
[NCBI]
|
1.42385e-05
|
|
|
IGFBP2
|
[NCBI]
|
1.42385e-05
|
|
|
CASQ2
|
[NCBI]
|
1.42385e-05
|
|
|
C10ORF2
|
[NCBI]
|
1.42385e-05
|
|
|
FHL1
|
[NCBI]
|
1.42385e-05
|
|
|
TTID
|
[NCBI]
|
1.42385e-05
|
|
|
HAND2
|
[NCBI]
|
1.42385e-05
|
|
|
BMP5
|
[NCBI]
|
1.42385e-05
|
|
|
SLOS
|
[NCBI]
|
1.39578e-05
|
|
|
PDB
|
[NCBI]
|
1.35327e-05
|
|
|
alsin
|
[NCBI]
|
1.32658e-05
|
|
|
PRKAA2
|
[NCBI]
|
1.32658e-05
|
|
|
SLC2A5
|
[NCBI]
|
1.32658e-05
|
|
|
RAP1B
|
[NCBI]
|
1.32658e-05
|
|
|
CHRNG
|
[NCBI]
|
1.32658e-05
|
|
|
SCN1B
|
[NCBI]
|
1.32658e-05
|
|
|
COLQ
|
[NCBI]
|
1.32658e-05
|
|
|
TCF12
|
[NCBI]
|
1.32658e-05
|
|
|
ITPA
|
[NCBI]
|
1.32658e-05
|
|
|
ISL1
|
[NCBI]
|
1.32658e-05
|
|
|
SGCD
|
[NCBI]
|
1.32658e-05
|
|
|
TG
|
[NCBI]
|
1.31148e-05
|
|
|
NGFR
|
[NCBI]
|
1.27022e-05
|
|
|
ALS1
|
[NCBI]
|
1.25988e-05
|
|
|
PARK2
|
[NCBI]
|
1.24893e-05
|
|
|
CAPN10
|
[NCBI]
|
1.24228e-05
|
|
|
LARGE
|
[NCBI]
|
1.24228e-05
|
|
|
SMARCA2
|
[NCBI]
|
1.24228e-05
|
|
|
AKT2
|
[NCBI]
|
1.24228e-05
|
|
|
RGS4
|
[NCBI]
|
1.24228e-05
|
|
|
AK3
|
[NCBI]
|
1.24228e-05
|
|
|
KCNA4
|
[NCBI]
|
1.24228e-05
|
|
|
ATXN2
|
[NCBI]
|
1.24228e-05
|
|
|
TPM1
|
[NCBI]
|
1.24228e-05
|
|
|
FGF6
|
[NCBI]
|
1.24228e-05
|
|
|
MTTI
|
[NCBI]
|
1.24228e-05
|
|
|
GTF2IRD1
|
[NCBI]
|
1.24228e-05
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
1.24228e-05
|
|
|
TNNI2
|
[NCBI]
|
1.24228e-05
|
|
|
CNTFR
|
[NCBI]
|
1.24228e-05
|
|
|
CAT
|
[NCBI]
|
1.23663e-05
|
|
|
PPAC
|
[NCBI]
|
1.23303e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
1.23303e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
1.23303e-05
|
|
|
G6PD
|
[NCBI]
|
1.2319e-05
|
|
|
IRS1
|
[NCBI]
|
1.1982e-05
|
|
|
APOB
|
[NCBI]
|
1.19759e-05
|
|
|
PC
|
[NCBI]
|
1.19487e-05
|
|
|
TLR4
|
[NCBI]
|
1.18409e-05
|
|
|
NGFB
|
[NCBI]
|
1.17296e-05
|
|
|
FBXO32
|
[NCBI]
|
1.16806e-05
|
|
|
SFRP4
|
[NCBI]
|
1.16806e-05
|
|
|
NOV
|
[NCBI]
|
1.16806e-05
|
|
|
RSN
|
[NCBI]
|
1.16806e-05
|
|
|
FXR1
|
[NCBI]
|
1.16806e-05
|
|
|
FBLN1
|
[NCBI]
|
1.16806e-05
|
|
|
complement component 2 deficiency
|
[NCBI]
|
1.16806e-05
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
1.13757e-05
|
|
|
PVR
|
[NCBI]
|
1.10437e-05
|
|
|
CAST
|
[NCBI]
|
1.10188e-05
|
|
|
NFATC3
|
[NCBI]
|
1.10188e-05
|
|
|
COL6A2
|
[NCBI]
|
1.10188e-05
|
|
|
PKM2
|
[NCBI]
|
1.10188e-05
|
|
|
CCND3
|
[NCBI]
|
1.10188e-05
|
|
|
HADH
|
[NCBI]
|
1.10188e-05
|
|
|
CBP2
|
[NCBI]
|
1.10188e-05
|
|
|
DFSP
|
[NCBI]
|
1.07946e-05
|
|
|
TFAP2A
|
[NCBI]
|
1.04228e-05
|
|
|
RYR3
|
[NCBI]
|
1.04228e-05
|
|
|
UBB
|
[NCBI]
|
1.04228e-05
|
|
|
GSK3A
|
[NCBI]
|
1.04228e-05
|
|
|
WFS1
|
[NCBI]
|
1.02269e-05
|
|
|
CLN1
|
[NCBI]
|
1.02269e-05
|
|
|
BCL2
|
[NCBI]
|
1.01943e-05
|
|
|
NPPA
|
[NCBI]
|
1.0051e-05
|
|
|
TGFB1
|
[NCBI]
|
9.99437e-06
|
|
|
IDH1
|
[NCBI]
|
9.88156e-06
|
|
|
ME2
|
[NCBI]
|
9.88156e-06
|
|
|
SURF1
|
[NCBI]
|
9.88156e-06
|
|
|
GDAP1
|
[NCBI]
|
9.88156e-06
|
|
|
AGXT
|
[NCBI]
|
9.88156e-06
|
|
|
IP
|
[NCBI]
|
9.5972e-06
|
|
|
LDHC
|
[NCBI]
|
9.38663e-06
|
|
|
DSCR1
|
[NCBI]
|
9.38663e-06
|
|
|
NTF3
|
[NCBI]
|
9.38663e-06
|
|
|
EPM2A
|
[NCBI]
|
9.38663e-06
|
|
|
GCG
|
[NCBI]
|
9.38663e-06
|
|
|
TGD
|
[NCBI]
|
9.3046e-06
|
|
|
CDH2
|
[NCBI]
|
8.93139e-06
|
|
|
GDI1
|
[NCBI]
|
8.93139e-06
|
|
|
CA4
|
[NCBI]
|
8.93139e-06
|
|
|
NR4A1
|
[NCBI]
|
8.93139e-06
|
|
|
CBFA2T1
|
[NCBI]
|
8.93139e-06
|
|
|
SLC2A1
|
[NCBI]
|
8.93139e-06
|
|
|
MPZ
|
[NCBI]
|
8.54754e-06
|
|
|
TAZ
|
[NCBI]
|
8.51053e-06
|
|
|
SPG7
|
[NCBI]
|
8.51053e-06
|
|
|
PPARBP
|
[NCBI]
|
8.51053e-06
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
8.45694e-06
|
|
|
PNKD1
|
[NCBI]
|
8.45694e-06
|
|
|
CSNB1A
|
[NCBI]
|
8.45694e-06
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
8.45694e-06
|
|
|
FGFR4
|
[NCBI]
|
8.11973e-06
|
|
|
ANGPTL4
|
[NCBI]
|
8.11973e-06
|
|
|
RXRA
|
[NCBI]
|
8.11973e-06
|
|
|
RBP4
|
[NCBI]
|
8.11973e-06
|
|
|
CAPN3
|
[NCBI]
|
8.11973e-06
|
|
|
GJD2
|
[NCBI]
|
8.11973e-06
|
|
|
NFATC2
|
[NCBI]
|
8.11973e-06
|
|
|
TPM3
|
[NCBI]
|
8.11973e-06
|
|
|
SLC16A2
|
[NCBI]
|
8.11973e-06
|
|
|
MAG
|
[NCBI]
|
8.01814e-06
|
|
|
PGM3
|
[NCBI]
|
7.75546e-06
|
|
|
CBL
|
[NCBI]
|
7.75546e-06
|
|
|
PRX
|
[NCBI]
|
7.75546e-06
|
|
|
APTX
|
[NCBI]
|
7.75546e-06
|
|
|
ANKRD1
|
[NCBI]
|
7.75546e-06
|
|
|
VASP
|
[NCBI]
|
7.73146e-06
|
|
|
HD
|
[NCBI]
|
7.43901e-06
|
|
|
NEB
|
[NCBI]
|
7.41476e-06
|
|
|
PTPN11
|
[NCBI]
|
7.41476e-06
|
|
|
MTCO2
|
[NCBI]
|
7.41476e-06
|
|
|
HSD17B4
|
[NCBI]
|
7.41476e-06
|
|
|
udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase
|
[NCBI]
|
7.41476e-06
|
|
|
P4HB
|
[NCBI]
|
7.41476e-06
|
|
|
NKX2E
|
[NCBI]
|
7.41476e-06
|
|
|
GSK3B
|
[NCBI]
|
7.41476e-06
|
|
|
MAP4
|
[NCBI]
|
7.09516e-06
|
|
|
NFATC1
|
[NCBI]
|
7.09516e-06
|
|
|
ITGB4
|
[NCBI]
|
7.09516e-06
|
|
|
MAP2K1
|
[NCBI]
|
7.09516e-06
|
|
|
ATP2A2
|
[NCBI]
|
7.09516e-06
|
|
|
CPI
|
[NCBI]
|
7.06703e-06
|
|
|
CHAT
|
[NCBI]
|
7.03826e-06
|
|
|
sialuria, finnish type
|
[NCBI]
|
6.95813e-06
|
|
|
INS
|
[NCBI]
|
6.83839e-06
|
|
|
EEF2
|
[NCBI]
|
6.79453e-06
|
|
|
CALCA
|
[NCBI]
|
6.79453e-06
|
|
|
ATR
|
[NCBI]
|
6.79453e-06
|
|
|
ACADM
|
[NCBI]
|
6.78714e-06
|
|
|
AR
|
[NCBI]
|
6.63302e-06
|
|
|
TYRP1
|
[NCBI]
|
6.51106e-06
|
|
|
SFRP1
|
[NCBI]
|
6.51106e-06
|
|
|
TF
|
[NCBI]
|
6.47421e-06
|
|
|
CMD1A
|
[NCBI]
|
6.29549e-06
|
|
|
MTCO1
|
[NCBI]
|
6.24321e-06
|
|
|
NRTN
|
[NCBI]
|
6.24321e-06
|
|
|
PF4
|
[NCBI]
|
6.15239e-06
|
|
|
GSN
|
[NCBI]
|
5.9896e-06
|
|
|
HIPK2
|
[NCBI]
|
5.9896e-06
|
|
|
MYH9
|
[NCBI]
|
5.9896e-06
|
|
|
CYP17A1
|
[NCBI]
|
5.9896e-06
|
|
|
PRKAR1A
|
[NCBI]
|
5.74905e-06
|
|
|
CREB1
|
[NCBI]
|
5.74905e-06
|
|
|
OKS
|
[NCBI]
|
5.68422e-06
|
|
|
mucolipidosis iv
|
[NCBI]
|
5.68422e-06
|
|
|
AKR1B1
|
[NCBI]
|
5.66458e-06
|
|
|
CD59
|
[NCBI]
|
5.52051e-06
|
|
|
GK
|
[NCBI]
|
5.52051e-06
|
|
|
EMD
|
[NCBI]
|
5.52051e-06
|
|
|
LFNG
|
[NCBI]
|
5.30306e-06
|
|
|
ACOX1
|
[NCBI]
|
5.30306e-06
|
|
|
NRG1
|
[NCBI]
|
5.28733e-06
|
|
|
leber optic atrophy
|
[NCBI]
|
5.27934e-06
|
|
|
GHRH
|
[NCBI]
|
5.26376e-06
|
|
|
SLC3A2
|
[NCBI]
|
5.09587e-06
|
|
|
ADA
|
[NCBI]
|
5.05122e-06
|
|
|
PTH
|
[NCBI]
|
4.97868e-06
|
|
|
IGF1R
|
[NCBI]
|
4.89822e-06
|
|
|
AK1
|
[NCBI]
|
4.89822e-06
|
|
|
NPY
|
[NCBI]
|
4.72854e-06
|
|
|
IKBKB
|
[NCBI]
|
4.70945e-06
|
|
|
ADORA3
|
[NCBI]
|
4.70945e-06
|
|
|
fucosidosis
|
[NCBI]
|
4.70945e-06
|
|
|
GDNF
|
[NCBI]
|
4.68711e-06
|
|
|
DA2A
|
[NCBI]
|
4.59988e-06
|
|
|
MARCKS
|
[NCBI]
|
4.52895e-06
|
|
|
RPS6KA3
|
[NCBI]
|
4.52895e-06
|
|
|
FRDA
|
[NCBI]
|
4.47292e-06
|
|
|
IAPP
|
[NCBI]
|
4.44846e-06
|
|
|
TPI1
|
[NCBI]
|
4.19073e-06
|
|
|
KCNQ1
|
[NCBI]
|
3.87983e-06
|
|
|
CHAC
|
[NCBI]
|
3.67748e-06
|
|
|
MAP2
|
[NCBI]
|
3.66624e-06
|
|
|
TTR
|
[NCBI]
|
3.64412e-06
|
|
|
MTND1
|
[NCBI]
|
3.59319e-06
|
|
|
PHEX
|
[NCBI]
|
3.59319e-06
|
|
|
FABP3
|
[NCBI]
|
3.59319e-06
|
|
|
PDHA1
|
[NCBI]
|
3.45814e-06
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
3.32821e-06
|
|
|
MAPK14
|
[NCBI]
|
3.32821e-06
|
|
|
XPA
|
[NCBI]
|
3.26997e-06
|
|
|
WT1
|
[NCBI]
|
3.25982e-06
|
|
|
FXYD1
|
[NCBI]
|
3.20314e-06
|
|
|
ACPP
|
[NCBI]
|
3.15828e-06
|
|
|
FRAP1
|
[NCBI]
|
3.06248e-06
|
|
|
FMF
|
[NCBI]
|
3.02848e-06
|
|
|
ABL1
|
[NCBI]
|
2.96663e-06
|
|
|
EIF4E
|
[NCBI]
|
2.96663e-06
|
|
|
ACE
|
[NCBI]
|
2.94948e-06
|
|
|
AHC
|
[NCBI]
|
2.89505e-06
|
|
|
SOD1
|
[NCBI]
|
2.76932e-06
|
|
|
SLC16A1
|
[NCBI]
|
2.74687e-06
|
|
|
WT1
|
[NCBI]
|
2.64279e-06
|
|
|
HS
|
[NCBI]
|
2.64279e-06
|
|
|
UCP1
|
[NCBI]
|
2.54009e-06
|
|
|
PARG
|
[NCBI]
|
2.26134e-06
|
|
|
MAP1B
|
[NCBI]
|
2.08954e-06
|
|
|
PAX3
|
[NCBI]
|
2.08954e-06
|
|
|
XDH
|
[NCBI]
|
2.08061e-06
|
|
|
MC1R
|
[NCBI]
|
1.92905e-06
|
|
|
CDK2
|
[NCBI]
|
1.89064e-06
|
|
|
NP
|
[NCBI]
|
1.85277e-06
|
|
|
menkes disease
|
[NCBI]
|
1.78541e-06
|
|
|
GSC
|
[NCBI]
|
1.70768e-06
|
|
|
OXT
|
[NCBI]
|
1.48026e-06
|
|
|
ACH
|
[NCBI]
|
1.47249e-06
|
|
|
TYR
|
[NCBI]
|
1.44495e-06
|
|
|
VCP
|
[NCBI]
|
1.44495e-06
|
|
|
sotos syndrome
|
[NCBI]
|
1.4422e-06
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
1.4422e-06
|
|
|
CP
|
[NCBI]
|
1.37654e-06
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.32529e-06
|
|
|
CTNS
|
[NCBI]
|
1.22482e-06
|
|
|
NR0B2
|
[NCBI]
|
1.16192e-06
|
|
|
GPT
|
[NCBI]
|
1.06124e-06
|
|
|
FGF7
|
[NCBI]
|
1.05587e-06
|
|
|
ALK
|
[NCBI]
|
1.04047e-06
|
|
|
PABPC1
|
[NCBI]
|
9.67075e-07
|
|
|
PPARA
|
[NCBI]
|
9.55557e-07
|
|
|
CHS
|
[NCBI]
|
9.47346e-07
|
|
|
PLN
|
[NCBI]
|
8.79054e-07
|
|
|
APRT
|
[NCBI]
|
8.76798e-07
|
|
|
SOD2
|
[NCBI]
|
8.22134e-07
|
|
|
LCAT
|
[NCBI]
|
7.91004e-07
|
|
|
BMP2
|
[NCBI]
|
7.57797e-07
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
7.57797e-07
|
|
|
LRP1
|
[NCBI]
|
7.42152e-07
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
6.96038e-07
|
|
|
CMT1B
|
[NCBI]
|
6.96038e-07
|
|
|
RSTS
|
[NCBI]
|
6.96038e-07
|
|
|
NPC1
|
[NCBI]
|
6.8965e-07
|
|
|
GIP
|
[NCBI]
|
6.57983e-07
|
|
|
KCNH2
|
[NCBI]
|
6.29611e-07
|
|
|
HP
|
[NCBI]
|
6.29517e-07
|
|
|
LIPC
|
[NCBI]
|
6.14641e-07
|
|
|
UCP3
|
[NCBI]
|
6.14641e-07
|
|
|
SHBG
|
[NCBI]
|
5.89117e-07
|
|
|
CMH
|
[NCBI]
|
5.70118e-07
|
|
|
HDC
|
[NCBI]
|
5.52004e-07
|
|
|
apc gene
|
[NCBI]
|
4.90702e-07
|
|
|
CMT1A
|
[NCBI]
|
4.86333e-07
|
|
|
GRP
|
[NCBI]
|
4.82529e-07
|
|
|
GAL
|
[NCBI]
|
4.74247e-07
|
|
|
EPOR
|
[NCBI]
|
4.65243e-07
|
|
|
PPARG
|
[NCBI]
|
4.62498e-07
|
|
|
MUC1
|
[NCBI]
|
4.5258e-07
|
|
|
PNMT
|
[NCBI]
|
4.33893e-07
|
|
|
TRPV1
|
[NCBI]
|
4.09239e-07
|
|
|
BCHE
|
[NCBI]
|
4.00189e-07
|
|
|
PLTP
|
[NCBI]
|
3.36863e-07
|
|
|
maple syrup urine disease
|
[NCBI]
|
3.31288e-07
|
|
|
TCOF
|
[NCBI]
|
3.31288e-07
|
|
|
IS1
|
[NCBI]
|
2.98039e-07
|
|
|
SLC18A3
|
[NCBI]
|
2.9371e-07
|
|
|
ILK
|
[NCBI]
|
2.0563e-07
|
|
|
ESD
|
[NCBI]
|
1.8381e-07
|
|
|
mucolipidosis ii
|
[NCBI]
|
1.78201e-07
|
|
|
ALB
|
[NCBI]
|
1.7391e-07
|
|
|
SHH
|
[NCBI]
|
1.46457e-07
|
|
|
FGFR2
|
[NCBI]
|
1.26825e-07
|
|
|
DHFR
|
[NCBI]
|
1.25048e-07
|
|
|
HGPS
|
[NCBI]
|
1.08186e-07
|
|
|
CDK4
|
[NCBI]
|
9.54615e-08
|
|
|
VIM
|
[NCBI]
|
8.14923e-08
|
|
|
BGLAP
|
[NCBI]
|
7.08675e-08
|
|
|
LEP
|
[NCBI]
|
3.98777e-08
|
|
|
CDK5
|
[NCBI]
|
3.20936e-08
|
|
|
MKS1
|
[NCBI]
|
2.90658e-08
|
|
|
FGFR1
|
[NCBI]
|
2.75988e-08
|
|
|
AGER
|
[NCBI]
|
2.68983e-08
|
|
|
PNPLA6
|
[NCBI]
|
1.79958e-08
|
|
|
TD1
|
[NCBI]
|
1.78163e-08
|
|
|
PRNP
|
[NCBI]
|
1.3581e-08
|
|
|
TNC
|
[NCBI]
|
1.08123e-08
|
|
|
LNS
|
[NCBI]
|
3.48143e-09
|
|
|
ZS
|
[NCBI]
|
9.16695e-10
|
|